Variant report

Variant	rs653935
Chromosome Location	chr1:210503073-210503074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210499300..210503346-chr1:210545682..210548805,5	K562	blood:
2	chr1:210497683..210507034-chr1:210544536..210549319,22	MCF-7	breast:
3	chr1:210405800..210407964-chr1:210502205..210503882,2	MCF-7	breast:
4	chr1:210498648..210506320-chr1:210545155..210548300,7	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11119446	1.00[EUR][1000 genomes]
rs55792645	1.00[EUR][1000 genomes]
rs55884682	1.00[EUR][1000 genomes]
rs56215802	1.00[EUR][1000 genomes]
rs56397999	1.00[EUR][1000 genomes]
rs59742593	1.00[EUR][1000 genomes]
rs621684	1.00[EUR][1000 genomes]
rs663132	1.00[EUR][1000 genomes]
rs663987	1.00[EUR][1000 genomes]
rs685743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73074137	1.00[EUR][1000 genomes]
rs74156132	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210501600-210503200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:210501600-210503200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:210501600-210503200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:210501600-210503200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:210501600-210503200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:210501600-210503200	Active TSS	Fetal Brain Female	brain
7	chr1:210501600-210503400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:210501800-210503200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr1:210501800-210503200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:210501800-210503200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:210501800-210503200	Active TSS	Fetal Intestine Large	intestine
12	chr1:210501800-210503200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:210501800-210503200	Active TSS	Left Ventricle	heart
14	chr1:210501800-210503200	Active TSS	Lung	lung
15	chr1:210501800-210503200	Active TSS	Thymus	Thymus
16	chr1:210501800-210503400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:210501800-210503400	Active TSS	Fetal Kidney	kidney
18	chr1:210502000-210503200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:210502000-210503200	Active TSS	Brain Angular Gyrus	brain
20	chr1:210502000-210503200	Active TSS	Brain Hippocampus Middle	brain
21	chr1:210502000-210503200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:210502000-210503200	Active TSS	Fetal Intestine Small	intestine
23	chr1:210502000-210503200	Active TSS	Fetal Muscle Trunk	muscle
24	chr1:210502000-210503200	Active TSS	Fetal Stomach	stomach
25	chr1:210502000-210503200	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:210502000-210503200	Active TSS	Right Atrium	heart
27	chr1:210502000-210503200	Active TSS	Right Ventricle	heart
28	chr1:210502000-210503200	Active TSS	HSMM	muscle
29	chr1:210502000-210503400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:210502000-210503400	Active TSS	Colonic Mucosa	Colon
31	chr1:210502000-210503400	Active TSS	Colon Smooth Muscle	Colon
32	chr1:210502200-210503200	Active TSS	Primary B cells from cord blood	blood
33	chr1:210502200-210503200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:210502200-210503200	Active TSS	Brain Germinal Matrix	brain
35	chr1:210502400-210503400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:210502600-210503200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr1:210502600-210503200	Flanking Active TSS	HMEC	breast
38	chr1:210502600-210503200	Flanking Active TSS	HUVEC	blood vessel
39	chr1:210502600-210503200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:210502600-210503400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:210502600-210503400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:210502600-210503600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:210502600-210504000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:210502800-210503200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:210502800-210503200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr1:210502800-210503200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr1:210502800-210503200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:210502800-210503200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:210502800-210503200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr1:210502800-210503200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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